Primary hyperoxaluria (PH) is a rare disorder characterized by excessive synthesis and urinary secretion of oxalate. There are three subtypes of PH based on the genetic defect encoding the enzyme—PH1 with glyoxylate metabolism defect leading to increased glyoxylic acid in urine, PH2 with hydroxypyruvate defect and PH3 with defect in liver-specific mitochondrial 4-hydroxy-2-oxoglutarate aldolase enzyme. PH1 is more common, more severe and more likely to produce crystal formation. Two general presentations of PH are known, classic and infantile presentation. Here, we present a rare case of infantile presentation, where nephrocalcinosis sets in at a very early age without nephrolithiasis, leading to end stage renal disease (ESRD) in very early childhood and extra renal deposition in skeletal system.1,2
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